Table 3 XP-D Patient Findings
Patient | Age at Test Date | Sex | Neuropathy | Audiology | MRI/CT Imaging | IQ Testing | DTR | |||
|---|---|---|---|---|---|---|---|---|---|---|
ID # (Protocol designated ID) |  |  | Abn SNC | Abn MNC | SNHL | Cerebral Atrophy | Cerebellar Atrophy | Hypo- myelination | IQ < 80 | Absent |
XPD1 (XP29BE)a-c | 22 | M | + | – | Mod | 3 | 2 | – | + | + |
XPD2 (XP528BE) | 19 | M | + | – | Mild | 1 | 0 | – | + | + |
XPD3 (XP32BE) | 42 | M | + | – | Mild | 2 | 1 | ND | ND | + |
XPD4 (XP33BE)a | 31 | F | + | – | Mod | 2 | 1 | – | + | + |
XPD5 (XP400BE) | 17 | M | + | – | Mild | 1 | 0 | – | + | + |
XPD6 (XP116BE) | 5 | F | – | – | Normal | 0 | 0 | – | – | + |
XPD7 (XP82BE) | 11 | F | – | – | Normal | 0 | 0 | – | – | ND |
XPD8 (XP30BR-D) | 13 | M | – | – | Normal | 0 | 0 | – | – | ND |
XPD9 (XP341BE) | 3 | M | – | – | Normal | 0 | 0 | – | + | _ |
XPD10 (XP416BE) | 13 | F | – | – | Normal | 0 | 0 | – | + | – |